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Fanca Fanconi anemia, complementation group A [ Mus musculus (house mouse) ]

Gene ID: 14087, updated on 2-Nov-2024

Summary

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Official Symbol
Fancaprovided by MGI
Official Full Name
Fanconi anemia, complementation group Aprovided by MGI
Primary source
MGI:MGI:1341823
See related
Ensembl:ENSMUSG00000032815 AllianceGenome:MGI:1341823
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
FACA
Summary
Acts upstream of or within several processes, including gonad development; regulation of CD40 signaling pathway; and regulation of regulatory T cell differentiation. Predicted to be located in chromatin and nucleoplasm. Predicted to be part of Fanconi anaemia nuclear complex. Is expressed in several structures, including brain; gut; liver; reproductive system; and spleen. Used to study Fanconi anemia complementation group A. Human ortholog(s) of this gene implicated in several diseases, including Fanconi anemia (multiple); acute myeloid leukemia; esophagus squamous cell carcinoma; ovarian disease (multiple); and skin melanoma. Orthologous to human FANCA (FA complementation group A). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in genital fat pad adult (RPKM 12.2), CNS E11.5 (RPKM 9.2) and 27 other tissues See more
Orthologs
human all
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Genomic context

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See Fanca in Genome Data Viewer
Location:
8 E1; 8 72.1 cM
Exon count:
46
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (123993033..124045390, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (123266294..123318651, complement)

Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4933417D19 gene Neighboring gene cyclin dependent kinase 10 Neighboring gene spermatogenesis associated 2-like Neighboring gene VPS9 domain containing 1 Neighboring gene zinc finger protein (C2H2 type) 276 Neighboring gene STARR-positive B cell enhancer ABC_E8971 Neighboring gene STARR-seq mESC enhancer starr_22969 Neighboring gene STARR-seq mESC enhancer starr_22970 Neighboring gene spire type actin nucleation factor 2 Neighboring gene STARR-positive B cell enhancer ABC_E2278 Neighboring gene transcription factor 25 (basic helix-loop-helix)

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. FANCA deficiency promotes leukaemic progression by allowing the emergence of cells carrying oncogenic driver mutations. Pawlikowska P, et al. Oncogene, 2023 Sep. PMID 37573408, Free PMC Article
  2. Expression of the Fanconi anemia group A gene (Fanca) during mouse embryogenesis. Abu-Issa R, et al. Blood, 1999 Jul 15. PMID 10397750
  3. Cloning and characterization of murine fanconi anemia group A gene: Fanca protein is expressed in lymphoid tissues, testis, and ovary. van de Vrugt HJ, et al. Mamm Genome, 2000 Apr. PMID 10754110
  4. Gonadotropin-releasing hormone regulates expression of the DNA damage repair gene, Fanconi anemia A, in pituitary gonadotroph cells. Larder R, et al. Biol Reprod, 2004 Sep. PMID 15128600, Free PMC Article
  5. A heterozygous hypomorphic mutation of Fanca causes impaired follicle development and subfertility in female mice. Pan Y, et al. Mol Genet Genomics, 2021 Jan. PMID 33025164

See all (76) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Numbers of long-term hematopoietic stem cells from bone marrow of fanca and fancc knockout mice can be greatly enhanced by their collection and processing in physioxia conditions.
    Title: Numbers of long-term hematopoietic stem cells from bone marrow of fanca and fancc knockout mice can be greatly enhanced by their collection and processing in physioxia conditions.
  2. A heterozygous hypomorphic mutation of Fanca causes impaired follicle development and subfertility in female mice.
    Title: A heterozygous hypomorphic mutation of Fanca causes impaired follicle development and subfertility in female mice.
  3. Using Fanca(-/-) HSCs expressing the separation-of-function mutant p53(515C) transgene, which selectively impairs the p53 function in apoptosis but keeps its cell-cycle checkpoint activities intact, we show that the p53 cell-cycle function is specifically required for the regulation of Fanca(-/-) HSC proliferation.
    Title: Cell-Cycle-Specific Function of p53 in Fanconi Anemia Hematopoietic Stem and Progenitor Cell Proliferation.
  4. Fanca(-/-) mice showed a skewed Vkappa gene usage.
    Title: V(D)J recombination process and the Pre-B to immature B-cells transition are altered in Fanca(-/-) mice.
  5. FANCA safeguards interphase and mitosis during hematopoiesis
    Title: FANCA safeguards interphase and mitosis during hematopoiesis in vivo.
  6. study indicates that Fanca expression during endomitosis is crucial for normal megakaryopoiesis and platelet production.
    Title: Defective endomitosis during megakaryopoiesis leads to thrombocytopenia in Fanca-/- mice.
  7. Data show that Fanconi anemia complementation group A Fanca is required for the induction of transition mutations at A/T residues during somatic hypermutation (SHM) and immunoglobulin (Ig) class switch recombination (CSR).
    Title: Fanca deficiency reduces A/T transitions in somatic hypermutation and alters class switch recombination junctions in mouse B cells.
  8. CD25(+)Foxp3(+) Tregs of Fanca(-/-) or Fancd2(-/-) mice were less efficient in suppressing the production of GVHD-associated inflammatory cytokines.
    Title: Deletion of Fanca or Fancd2 dysregulates Treg in mice.
  9. null mutations in Fanca or Fancg are fully epistatic
    Title: Evidence for complete epistasis of null mutations in murine Fanconi anemia genes Fanca and Fancg.
  10. genetic diversity in FANCA, FANCC and FANCL does not support an association of these genes with cervical cancer susceptibility in the Swedish population.
    Title: Evaluation of Fanconi anaemia genes FANCA, FANCC and FANCL in cervical cancer susceptibility.
Submit: New GeneRIF Correction See all GeneRIFs (15)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Targeted (8)  1 citation

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Process Evidence Code Pubs
acts_upstream_of_or_within female gonad development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in interstrand cross-link repair IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within male gonad development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within male meiotic nuclear division IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within regulation of CD40 signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within regulation of DNA-binding transcription factor activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within regulation of germ cell proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within regulation of inflammatory response IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of regulatory T cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within regulation of regulatory T cell differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of Fanconi anaemia nuclear complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of Fanconi anaemia nuclear complex ISO
Inferred from Sequence Orthology
more info
  
part_of Fanconi anaemia nuclear complex ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in chromatin IEA
Inferred from Electronic Annotation
more info
  
located_in chromatin ISO
Inferred from Sequence Orthology
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
Fanconi anemia group A protein homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_016925.4 → NP_058621.2  Fanconi anemia group A protein homolog

    See identical proteins and their annotated locations for NP_058621.2

    Status: VALIDATED

    Source sequence(s)
    AC155810
    Consensus CDS
    CCDS22753.1
    UniProtKB/Swiss-Prot
    E9QKQ4, Q9ESU9, Q9ESV3, Q9ET44, Q9JL64, Q9JL65, Q9JL66, Q9JL67, Q9JL68, Q9JL69, Q9JL70
    UniProtKB/TrEMBL
    B2RWU3
    Related
    ENSMUSP00000045217.9, ENSMUST00000035495.15
    Conserved Domains (2) summary
    pfam03511
    Location:1246 → 1308
    Fanconi_A; Fanconi anaemia group A protein
    pfam15865
    Location:169 → 518
    Fanconi_A_N; Fanconi anaemia group A protein N terminus

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000074.7 Reference GRCm39 C57BL/6J

    Range
    123993033..124045390 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006530661.4 → XP_006530724.1  Fanconi anemia group A protein homolog isoform X1

    UniProtKB/TrEMBL
    B2RWU3
    Conserved Domains (2) summary
    pfam03511
    Location:1237 → 1299
    Fanconi_A; Fanconi anaemia group A protein
    pfam15865
    Location:160 → 509
    Fanconi_A_N; Fanconi anaemia group A protein N-terminus

  2. XM_006530662.4 → XP_006530725.1  Fanconi anemia group A protein homolog isoform X2

    UniProtKB/TrEMBL
    B2RWU3
    Conserved Domains (2) summary
    pfam03511
    Location:1214 → 1276
    Fanconi_A; Fanconi anaemia group A protein
    pfam15865
    Location:140 → 486
    Fanconi_A_N; Fanconi anaemia group A protein N-terminus

  3. XM_036153753.1 → XP_036009646.1  Fanconi anemia group A protein homolog isoform X6

    Conserved Domains (1) summary
    pfam03511
    Location:664 → 726
    Fanconi_A; Fanconi anaemia group A protein

  4. XM_006530663.4 → XP_006530726.1  Fanconi anemia group A protein homolog isoform X3

    Conserved Domains (1) summary
    pfam15865
    Location:169 → 518
    Fanconi_A_N; Fanconi anaemia group A protein N-terminus

  5. XM_006530664.5 → XP_006530727.1  Fanconi anemia group A protein homolog isoform X4

    UniProtKB/TrEMBL
    F7CK17
    Conserved Domains (1) summary
    pfam15865
    Location:169 → 518
    Fanconi_A_N; Fanconi anaemia group A protein N-terminus

  6. XM_006530665.2 → XP_006530728.1  Fanconi anemia group A protein homolog isoform X5

    UniProtKB/TrEMBL
    F7CK17
    Related
    ENSMUSP00000116614.2, ENSMUST00000127904.8
    Conserved Domains (1) summary
    pfam15865
    Location:169 → 518
    Fanconi_A_N; Fanconi anaemia group A protein N-terminus

RNA

  1. XR_387732.4 RNA Sequence

  2. XR_004934770.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9JL70.2 GenPept UniProtKB/Swiss-Prot:Q9JL70

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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